ClinVar Miner

Submissions for variant NM_018979.4(WNK1):c.3573G>C (p.Met1191Ile)

dbSNP: rs1555148491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548057 SCV000649421 uncertain significance Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 2016-09-20 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a WNK1-related disease. This sequence change replaces methionine with isoleucine at codon 1191 of the WNK1 protein (p.Met1191Ile). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and isoleucine.

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